Canonical Allele Identifier: CA2573130569

Gene: LMNA

Linked Data

• ClinVar Variation Id: 1434231
• ClinVar RCV Id: RCV001952837
• dbSNP Id: rs2102879250

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.156134512_156134515dup , CM000663.2:g.156134512_156134515dup	GRCh38
NC_000001.10:g.156104303_156104306dup , CM000663.1:g.156104303_156104306dup	GRCh37
NC_000001.9:g.154370927_154370930dup	NCBI36
NG_008692.2:g.56940_56943dup , LRG_254:g.56940_56943dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504687.7:c.65_68dup	ENSP00000426535.3:p.Asn23LysfsTer6
ENST00000682650.1:c.623_626dup	ENSP00000506904.1:p.Asn209LysfsTer6
ENST00000683032.1:c.623_626dup	ENSP00000506771.1:p.Asn209LysfsTer6
ENST00000684195.1:c.623_626dup	ENSP00000508220.1:p.Asn209LysfsTer6
ENST00000361308.9:c.623_626dup	ENSP00000355292.6:p.Asn209LysfsTer6
ENST00000368300.9:c.623_626dup MANE Select	ENSP00000357283.4:p.Asn209LysfsTer6
ENST00000496738.6:n.998_1001dup
ENST00000504687.6:c.-42_-39dup	ENSP00000426535.2:n.-42_-39dup
ENST00000674518.1:c.623_626dup	ENSP00000502261.1:p.Asn209LysfsTer?
ENST00000674600.1:c.*422_*425dup	ENSP00000501666.1:n.*422_*425dup
ENST00000674720.1:c.623_626dup	ENSP00000502798.1:p.Asn209LysfsTer6
ENST00000675431.1:n.316_319dup
ENST00000675455.1:c.*423_*426dup	ENSP00000501795.1:n.*423_*426dup
ENST00000675667.1:c.623_626dup	ENSP00000501803.1:p.Asn209LysfsTer6
ENST00000675874.1:c.*94_*97dup	ENSP00000501851.1:n.*94_*97dup
ENST00000675881.1:c.623_626dup	ENSP00000501670.1:p.Asn209LysfsTer6
ENST00000675939.1:c.623_626dup	ENSP00000502256.1:p.Asn209LysfsTer6
ENST00000675989.1:n.998_1001dup
ENST00000676208.1:c.623_626dup	ENSP00000502468.1:p.Asn209LysfsTer6
ENST00000676283.1:n.998_1001dup
ENST00000676385.2:c.623_626dup	ENSP00000502091.1:p.Asn209LysfsTer6
ENST00000676434.1:c.623_626dup	ENSP00000501648.1:p.Asn209LysfsTer6
ENST00000677389.1:c.623_626dup MANE Plus Clinical	ENSP00000503633.1:p.Asn209LysfsTer6
ENST00000347559.6:c.623_626dup	ENSP00000292304.3:p.Asn209LysfsTer6
ENST00000361308.8:c.623_626dup	ENSP00000355292.5:p.Asn209LysfsTer6
ENST00000368297.5:c.380_383dup	ENSP00000357280.1:p.Asn128LysfsTer6
ENST00000368299.7:c.623_626dup	ENSP00000357282.3:p.Asn209LysfsTer6
ENST00000368300.8:c.623_626dup	ENSP00000357283.4:p.Asn209LysfsTer6
ENST00000368301.6:c.623_626dup	ENSP00000357284.2:p.Asn209LysfsTer6
ENST00000448611.6:c.287_290dup	ENSP00000395597.2:p.Asn97LysfsTer6
ENST00000473598.6:c.326_329dup	ENSP00000421821.1:p.Asn110LysfsTer6
ENST00000502357.5:n.521_524dup
ENST00000504687.5:c.374_377dup	ENSP00000426535.1:p.Asn126LysfsTer6
ENST00000515459.5:c.*297_*300dup	ENSP00000424518.1:n.*297_*300dup
NM_001257374.2:c.287_290dup	NP_001244303.1:p.Asn97LysfsTer6
NM_001282624.1:c.380_383dup	NP_001269553.1:p.Asn128LysfsTer6
NM_001282625.1:c.623_626dup	NP_001269554.1:p.Asn209LysfsTer6
NM_001282626.1:c.623_626dup	NP_001269555.1:p.Asn209LysfsTer6
NM_005572.3:c.623_626dup , LRG_254t1:c.623_626dup	NP_005563.1:p.Asn209LysfsTer6
NM_170707.3:c.623_626dup	NP_733821.1:p.Asn209LysfsTer6
NM_170708.3:c.623_626dup	NP_733822.1:p.Asn209LysfsTer6
XM_011509533.1:c.287_290dup	XP_011507835.1:p.Asn97LysfsTer6
XM_011509534.1:c.-42_-39dup	XP_011507836.1:n.-42_-39dup
XR_921781.1:n.872_875dup
XM_011509534.2:c.-42_-39dup	XP_011507836.1:n.-42_-39dup
XR_921781.2:n.870_873dup
NM_170707.4:c.623_626dup MANE Select	NP_733821.1:p.Asn209LysfsTer6
NM_001257374.3:c.287_290dup	NP_001244303.1:p.Asn97LysfsTer6
NM_001282626.2:c.623_626dup	NP_001269555.1:p.Asn209LysfsTer6
NM_001282624.2:c.380_383dup	NP_001269553.1:p.Asn128LysfsTer6
NM_001282625.2:c.623_626dup	NP_001269554.1:p.Asn209LysfsTer6
NM_005572.4:c.623_626dup MANE Plus Clinical	NP_005563.1:p.Asn209LysfsTer6
NM_170708.4:c.623_626dup	NP_733822.1:p.Asn209LysfsTer6